Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene.

Abstract excerpt

The biochemistry and molecular genetics underlying the related carbohydrate blood group antigens P, P(k), and LKE in the GLOB collection and P1 in the P blood group system are complex and not fully understood. Individuals with the rare but clinically important erythrocyte phenotypes P(1)(k) and P(2)(k) lack the capability to synthesize P antigen identified as globoside, the cellular receptor for Parvo-B19 virus...

Topics

• Base Sequence
• DNA Primers
• Homozygote
• Humans
• Molecular Sequence Data
• Mutation
• N-Acetylgalactosaminyltransferases
• P Blood-Group System
• Phenotype
• Polymerase Chain Reaction
• Polypeptide N-acetylgalactosaminyltransferase